Parul Ichhpujani,Rohan B Singh
Parul Ichhpujani
Glaucomatous optic neuropathy may be considered as an endpoint of multiple systemic factors. Genetic conditions commonly causing glaucoma in children and adolescents include Axenfeld-Reiger syndrome, aniridia, Marfan syndrome, Weill-Marches...
Christopher M Fecarotta,Wendy W Huang
Christopher M Fecarotta
Our objective is to evaluate the literature regarding selected genetic diseases of the cornea, including megalocornea, keratoglobus, keratoconus, cystinosis, the mucopolysaccharidoses, sclerocornea, Peters' anomaly, familial dysautonomia, a...
Mansi Patel,Aparna Ramasubramanian
Mansi Patel
Clinical presentation of two β-thalassemic Indian patients with 1p36 deletion syndrome: Case report [0.03%]
印度两名合并1p36缺失综合征的β-地中海贫血患者的临床表现：病例报告
Puspal De,Tridip Chatterjee,Sudipa Chakravarty et al.
Puspal De et al.
Here, we present two thalassemic patients (one male and one female), having unusual clinical phenotypes. Both had mental retardation in which one was associated with microcephaly and other had congenital cataract. They were referred to our ...
MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder [0.03%]
MURCS协会与完全内脏逆位：扩大光谱还是一种新型疾病？
Alka V Ekbote,Mohan S Kamath,Sumita Danda
Alka V Ekbote
We are reporting a female patient with a MURCS association (Müllerian duct aplasia, unilateral renal agenesis, cervico-thoracic somite fusion defects), situs inversus totalis, short stature with normal development and intelligence. We are ...
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene [0.03%]
FBN2剪切位点新突变所致马凡样综合征一例报告
Virendra Mehar,Dinesh Yadav,Ravindra Kumar et al.
Virendra Mehar et al.
Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with co...
A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome [0.03%]
早发严重马方综合征的复发性Fibrillin-1基因突变
Dimple Sureka,Chantal Stheneur,Sylvie Odent et al.
Dimple Sureka et al.
The recurrent substitution of isoleucine for threonine at codon 1048 (I1048T) substitution has been linked to severe, early onset Marfan syndrome, however, the existence of strong genotype-phenotype associations in Marfan syndrome (MFS) is ...
A feasibility trial of Cogmed working memory training in fragile X syndrome [0.03%]
脆性X综合征的认知训练可行性试验
Jacky Au,Laura Berkowitz-Sutherland,Andrea Schneider et al.
Jacky Au et al.
Individuals with fragile X syndrome (FXS) often present with an array of neurocognitive deficits, particularly in working memory (WM) and other executive functions. Evidence is accumulating that WM training can be effective in certain clini...
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism [0.03%]
皮特-霍普金斯综合征：智力低下，心理运动及发育迟缓并伴有面部畸形
Jorge Arturo Avina Fierro,Daniel Alejandro Hernández Avina
Jorge Arturo Avina Fierro
The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and cr...
Timothy D Klasson,Rachel H Giles
Timothy D Klasson
The primary cilium is a highly conserved cell organelle that is closely connected to processes involved in cell patterning and replication. Amongst their many functions, cilia act as "signal towers" through which cell-cell signaling cascade...